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Joseph G Gleeson

Showing results (281-290 of 325) with videos related to

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Nature Genetics|April 8, 2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionNaiara Akizu, Vincent Cantagrel, Maha S Zaki, et al.
American Journal of Human Genetics|July 13, 2022
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsErik Rosenhahn, Thomas J O'Brien, Maha S Zaki, et al.
Brain Communications|October 5, 2023
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesAndrea Accogli, Maha S Zaki, Mohammed Al-Owain, et al.
Nature Genetics|January 12, 2023
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical developmentChanguk Chung, Xiaoxu Yang, Taejeong Bae, et al.
Science (New York, N.Y.)|February 1, 2014
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersGaia Novarino, Ali G Fenstermaker, Maha S Zaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, et al.
American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
Genome Biology|March 30, 2021
Comprehensive identification of somatic nucleotide variants in human brain tissueYifan Wang, Taejeong Bae, Jeremy Thorpe, et al.
Ebiomedicine|August 27, 2024
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M Al Shamsi, et al.
Pageof 33

Showing results (281-290 of 325) with videos related to

Sort By:
Pageof 33
Nature Genetics|April 8, 2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionNaiara Akizu, Vincent Cantagrel, Maha S Zaki, et al.
American Journal of Human Genetics|July 13, 2022
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsErik Rosenhahn, Thomas J O'Brien, Maha S Zaki, et al.
Brain Communications|October 5, 2023
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesAndrea Accogli, Maha S Zaki, Mohammed Al-Owain, et al.
Nature Genetics|January 12, 2023
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical developmentChanguk Chung, Xiaoxu Yang, Taejeong Bae, et al.
Science (New York, N.Y.)|February 1, 2014
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersGaia Novarino, Ali G Fenstermaker, Maha S Zaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, et al.
American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
Genome Biology|March 30, 2021
Comprehensive identification of somatic nucleotide variants in human brain tissueYifan Wang, Taejeong Bae, Jeremy Thorpe, et al.
Ebiomedicine|August 27, 2024
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M Al Shamsi, et al.
Pageof 33